ClinVar for Gene (Select 23259) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 387

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337664	NM_015214.3(DDHD2):c.1611_1617+4dup	DDHD2	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 3337019	NM_015214.3(DDHD2):c.166T>A (p.Trp56Arg)	DDHD2 (W56R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3307823	NM_001102559.2(PLPP5):c.251G>C (p.Arg84Thr)	DDHD2, PLPP5 (R113T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3271193	NM_015214.3(DDHD2):c.569G>A (p.Arg190Gln)	DDHD2 (R190Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3271192	NM_015214.3(DDHD2):c.1300A>G (p.Arg434Gly)	DDHD2 (R404G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3215396	NM_001102559.2(PLPP5):c.727C>T (p.Pro243Ser)	DDHD2, PLPP5 (P111S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215395	NM_001102559.2(PLPP5):c.401G>A (p.Cys134Tyr)	PLPP5, DDHD2 (C163Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215394	NM_001102559.2(PLPP5):c.385C>T (p.His129Tyr)	DDHD2, PLPP5 (H158Y +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080732	NM_015214.3(DDHD2):c.2002A>C (p.Ile668Leu)	DDHD2 (I638L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080731	NM_015214.3(DDHD2):c.1786A>T (p.Met596Leu)	DDHD2 (M566L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080729	NM_015214.3(DDHD2):c.1709G>A (p.Arg570Gln)	DDHD2 (R570Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080728	NM_015214.3(DDHD2):c.1346G>T (p.Gly449Val)	DDHD2 (G419V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068647	NM_015214.3(DDHD2):c.1887_1890dup (p.Asp631Ter)	DDHD2 (D601* +1 more)	Duplication (nonsense +1 more)	Hereditary spastic paraplegia 54	GLikely pathogenic
Select item 3068415	NM_015214.3(DDHD2):c.819_820del (p.His273fs)	DDHD2 (H243fs +1 more)	Microsatellite (frameshift variant +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063029	GRCh37/hg19 8p11.23(chr8:37940338-38244738)x3	ASH2L, BAG4 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3005607	NM_015214.3(DDHD2):c.2055-17A>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2992620	NM_015214.3(DDHD2):c.966A>G (p.Thr322=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2964272	NM_015214.3(DDHD2):c.1462-10C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2912142	NM_015214.3(DDHD2):c.1249-20A>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2887328	NM_015214.3(DDHD2):c.321A>G (p.Ala107=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2868147	NM_015214.3(DDHD2):c.478ATT[2] (p.Ile162del)	DDHD2 (I162del)	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2861889	NM_015214.3(DDHD2):c.1057+9dup	DDHD2	Duplication (intron variant)	Hereditary spastic paraplegia 54	GBenign
Select item 2860135	NM_015214.3(DDHD2):c.1299A>G (p.Pro433=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2833689	NM_015214.3(DDHD2):c.220+20T>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2786304	NM_015214.3(DDHD2):c.1462-7del	DDHD2	Deletion (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2782869	NM_015214.3(DDHD2):c.2070A>G (p.Thr690=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2777957	NM_015214.3(DDHD2):c.338G>T (p.Cys113Phe)	DDHD2 (C113F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2736434	NM_015214.3(DDHD2):c.390G>A (p.Glu130=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2736001	NM_015214.3(DDHD2):c.618T>C (p.His206=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2734766	NM_015214.3(DDHD2):c.1345-18C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2723635	NM_015214.3(DDHD2):c.1342A>G (p.Met448Val)	DDHD2 (M418V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2721016	NM_015214.3(DDHD2):c.1518A>T (p.Gly506=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2714389	NM_015214.3(DDHD2):c.1155A>G (p.Gly385=)	DDHD2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2713580	NM_015214.3(DDHD2):c.1891+20T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2694153	NM_015214.3(DDHD2):c.453_454del (p.Lys152fs)	DDHD2 (K152fs)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 2692326	NM_015214.3(DDHD2):c.712+5G>A	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2692325	NM_015214.3(DDHD2):c.304T>C (p.Tyr102His)	DDHD2 (Y102H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2683008	NM_015214.3(DDHD2):c.568C>G (p.Arg190Gly)	DDHD2 (R190G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658543	NM_015214.3(DDHD2):c.891G>A (p.Arg297=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658542	NM_015214.3(DDHD2):c.756T>C (p.His252=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2615357	NM_015214.3(DDHD2):c.1304A>G (p.Lys435Arg)	DDHD2 (K405R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600500	NM_015214.3(DDHD2):c.499A>G (p.Lys167Glu)	DDHD2 (K167E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	ADGRA2, ADRB3 +53 more	Copy number loss	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 2574560	NM_015214.3(DDHD2):c.221-11A>G	DDHD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2554047	NM_015214.3(DDHD2):c.1097A>C (p.Asp366Ala)	DDHD2 (D336A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548010	NM_015214.3(DDHD2):c.95A>T (p.Asp32Val)	DDHD2 (D32V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530644	NM_001102559.2(PLPP5):c.347C>G (p.Pro116Arg)	DDHD2, PLPP5 (P75R +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2527277	NM_015214.3(DDHD2):c.360C>G (p.Asp120Glu)	DDHD2 (D120E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520684	NM_001102559.2(PLPP5):c.298A>C (p.Asn100His)	DDHD2, PLPP5 (N82H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2495072	NM_015214.3(DDHD2):c.1586C>T (p.Thr529Met)	DDHD2 (T529M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490374	NM_015214.3(DDHD2):c.1694A>G (p.His565Arg)	DDHD2 (H535R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457612	NM_001102559.2(PLPP5):c.773A>C (p.Asp258Ala)	DDHD2, PLPP5 (D258A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2439662	NM_015214.3(DDHD2):c.1901delinsTCTGTGGCAGTTAA (p.Thr634delinsIleCysGlySerTer)	DDHD2	Indel (nonsense +1 more)	Hereditary spastic paraplegia 54	GLikely pathogenic
Select item 2426105	NC_000008.10:g.(?_38117538)_(38961219_?)dup	ADAM9, DDHD2 +9 more	Duplication	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2425692	NC_000008.10:g.(?_37595441)_(38961219_?)dup	ADAM9, ADGRA2 +21 more	Duplication	Hereditary spastic paraplegia 54 +3 more	GUncertain significance
Select item 2416451	NM_015214.3(DDHD2):c.1892-16G>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2416406	NM_015214.3(DDHD2):c.296A>C (p.Tyr99Ser)	DDHD2 (Y99S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 2415558	NM_015214.3(DDHD2):c.1067T>C (p.Ile356Thr)	DDHD2 (I326T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2407645	NM_015214.3(DDHD2):c.1564G>A (p.Asp522Asn)	DDHD2 (D522N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407062	NM_001102559.2(PLPP5):c.286G>C (p.Ala96Pro)	DDHD2, PLPP5 (A125P +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383131	NM_001102559.2(PLPP5):c.613G>C (p.Asp205His)	DDHD2, PLPP5 (D205H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350993	NM_001102559.2(PLPP5):c.292G>A (p.Ala98Thr)	DDHD2, PLPP5 (A57T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332494	NM_015214.3(DDHD2):c.707A>G (p.Gln236Arg)	DDHD2 (Q236R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2318381	NM_015214.3(DDHD2):c.1402G>A (p.Glu468Lys)	DDHD2 (E438K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 2308843	NM_001102559.2(PLPP5):c.14C>T (p.Ala5Val)	DDHD2, LOC130000223 +1 more (A5V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306847	NM_015214.3(DDHD2):c.52C>G (p.Pro18Ala)	DDHD2 (P18A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285703	NM_015214.3(DDHD2):c.613A>G (p.Ile205Val)	DDHD2 (I205V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281325	NM_001102559.2(PLPP5):c.22G>T (p.Val8Leu)	DDHD2, LOC130000223 +1 more (V8L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275961	NM_015214.3(DDHD2):c.1877C>G (p.Ser626Ter)	DDHD2 (S626* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2246373	NM_015214.3(DDHD2):c.1614C>G (p.His538Gln)	DDHD2 (H538Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230314	NM_015214.3(DDHD2):c.1028G>C (p.Gly343Ala)	DDHD2 (G343A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229557	NM_015214.3(DDHD2):c.2132A>T (p.Gln711Leu)	DDHD2 (Q711L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223911	NM_001102559.2(PLPP5):c.59T>A (p.Leu20Gln)	DDHD2, LOC130000223 +1 more (L20Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221412	NM_001102559.2(PLPP5):c.362G>T (p.Arg121Leu)	DDHD2, PLPP5 (R121L +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2202619	NM_015214.3(DDHD2):c.815G>A (p.Trp272Ter)	DDHD2 (W242* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 2202017	NM_015214.3(DDHD2):c.455A>G (p.Lys152Arg)	DDHD2 (K152R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2200633	NM_015214.3(DDHD2):c.1345-3T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2200601	NM_015214.3(DDHD2):c.1344+15C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2198563	NM_015214.3(DDHD2):c.1415G>T (p.Ser472Ile)	DDHD2 (S472I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194795	NM_015214.3(DDHD2):c.1305G>C (p.Lys435Asn)	DDHD2 (K435N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2190427	NM_015214.3(DDHD2):c.986G>A (p.Arg329Gln)	DDHD2 (R329Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 2188521	NM_015214.3(DDHD2):c.412-11T>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2178402	NM_015214.3(DDHD2):c.1159A>G (p.Thr387Ala)	DDHD2 (T387A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2164600	NM_015214.3(DDHD2):c.1721-11A>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2162370	NM_015214.3(DDHD2):c.849-16T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2161213	NM_015214.3(DDHD2):c.1461+6T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2156106	NM_015214.3(DDHD2):c.1481G>A (p.Arg494Gln)	DDHD2 (R464Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2153718	NM_015214.3(DDHD2):c.1783C>A (p.Arg595=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2151531	NM_015214.3(DDHD2):c.1720+18A>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign

<< First< Prev

Page of 4